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6 OMIM references -
7 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Osteogenesis imperfecta type 4
Ehlers-Danlos syndrome type 7B

COL1A1 COL1A2
COL1A2
CRTAP
PPIB
SP7
TMEM38B
WNT1


COMMON
GENES
COL1A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL1A1
(0.62)
COL1A2



Citations in the biomedical literature:


Osteogenesis imperfecta type 4
COL1A1 COL1A2 CRTAP PPIB SP7 TMEM38B
WNT1
Ehlers-Danlos syndrome type 7B



Osteogenesis imperfecta type 4
Ehlers-Danlos syndrome type 7B

Synonym(s):
- OI type 4

Synonym(s):
- EDS VIIB

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
6 OMIM references -
1 MeSH reference: C536045
External references:
1 OMIM reference -
No MeSH references

Ehlers-Danlos syndrome type 7B

Very frequent
- Abnormal scarring / cheloids / hypertrophic scars
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Muscle weakness / flaccidity
- Short stature / dwarfism / nanism

Frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Herniae
- Rippled skin

Occasional
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets


Osteogenesis imperfecta type 4

(no data available)